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Blogs

Department of Biomedical Informatics News and Stories

Genetics

Education    Genetics    Graduation

New Graduates Leverage Genomics Education in Clinical and Research Settings

This summer marks the third graduating class of the Personalized and Genomic Medicine Graduate Certificate Program at the University of Colorado Anschutz Medical Campus and the largest yet with 19 students, nearly double the two previous classes.


Author Kara Mason | Publish Date June 18, 2024
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Research    Genetics

No Longer Useless: The Important Roles of ‘Junk DNA’

When geneticists started mapping the human genome, they were specifically interested in learning about genes and what they do. Everything else they deemed as “junk DNA.”


Author Kara Mason | Publish Date June 11, 2024
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Research    Genetics    Biomedical Informatics

Novel Software Combines Gene Activity and Tissue Location to Decode Disease Mechanisms

In disease research, it’s important to know gene expression and where in a tissue the expression is happening, but marrying the two sets of information can be challenging.


Author Kara Mason | Publish Date June 03, 2024
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Research    Genetics

How a Discovery in Bacterial Proteins Helped Create a Novel Research App

Computational biologist Janani Ravi, PhD, assistant professor of biomedical informatics at the University of Colorado School of Medicine, is looking deep into the functions of bacterial proteins and helping others do the same. 


Author Kara Mason | Publish Date May 29, 2024
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Research    Genetics    Awards    Announcements

Geneticist Katrina Claw Honored with Alan T. Waterman Award

The U.S. National Science Foundation (NSF) has granted Katrina Claw, PhD, assistant professor of biomedical informatics at the University of Colorado School of Medicine, the Alan T. Waterman Award, the nation’s highest honor for early-career scientists and engineers, for her contributions to science and dedication to diversity in the field.


Author Kara Mason | Publish Date April 24, 2024
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Research    Cancer    Genetics    Data analysis

Could Creating a Genetic Risk Score Improve Thyroid Cancer Diagnosis?

Researchers at the University of Colorado School of Medicine are hopeful new research could prevent up to 130,000 unneeded fine-needle aspiration (FNA) biopsies of thyroid nodules and subsequent surgeries each year in the United States by better understanding the genetic risk associated with thyroid cancer.


Author Kara Mason | Publish Date April 01, 2024
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Research    DNA    Genetics

Archaic Human DNA Analysis Points to Modern Day Drug Metabolism

Studying the DNA of Neanderthals and Denisovans, two archaic species that lived 100,000 to 30,000 years ago, is helping genomics researchers at the University of Colorado School of Medicine develop a deeper understanding of pharmacogenes, which can explain how and why modern humans process substances like food, pollutants, and medications.


Author Kara Mason | Publish Date January 23, 2024
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Research    DNA    Genetics

Why Do Zebrafish Make Model Organisms in Scientific Research?

At first glance, there don’t seem to be many similarities between humans and zebrafish, but the small freshwater minnows native to southeastern Asia have quickly become a favorite model organism in scientific research, allowing researchers to study human health, rare diseases, and treatment options.


Author Kara Mason | Publish Date September 26, 2023
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DNA    Genetics    Data analysis

What is Genomics?

Genes are at the center of nearly every human disease and symptom, and until the past few decades, medical researchers had a much narrower interpretation of the human body’s entire genetic makeup, also called the genome.


Author Kara Mason | Publish Date August 30, 2023
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Research    Genetics

How Trustworthy is Your Dog’s DNA Test?

Lila is a registered purebred beagle, but depending on what company does her DNA testing, she might be part rottweiler, part American foxhound, or not a beagle at all.


Author Kara Mason | Publish Date July 18, 2023
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Research    Advancement    Genetics

A Taste of the Future: CU Researcher Links Genetics with Dietary Intake

For geneticist Joanne Cole, PhD, food is life. Her love goes beyond trying a new recipe and seeking out new restaurants it’s also in her work in the University of Colorado Department of Biomedical Informatics (DBMI), identifying the connection between genetics and nutrition.


Author Kara Mason | Publish Date July 09, 2023
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Research    Diversity    Genetics

CU Researchers Weave Deeper Understanding of Diverse Ancestry and Gene Expression

Exploring diverse ancestry is a critical factor in furthering medical research.  

A new study published in Nature Genetics from researchers in the Department of Biomedical Informatics (DBMI) at the University of Colorado School of Medicine, in partnership with the University of California San Francisco and Stanford University, is the largest of its kind that focuses on ancestry correlations with biomedical traits and the first study to examine the role of genetic variants across diverse ancestries in regulating gene expression.


Author Kara Mason | Publish Date May 25, 2023
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Department of Biomedical Informatics In the News

IEEE Xplore

Deep Learning with Enforced Data Consistency

news outletIEEE Xplore
Publish DateJuly 10, 2024

In this manuscript we explore a computationally efficient approximation to hard data consistency. We present results when adding this data consistency layer into two existing networks designed for MRI reconstruction. After retraining with the additional consistency layer, the networks show improved out-of-distribution performance and suppression of hallucinations.

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JAMIA

phoenix: an R package and Python module for calculating the Phoenix pediatric sepsis score and criteria

news outletJAMIA
Publish DateJuly 10, 2024

The publication of the Phoenix criteria for pediatric sepsis and septic shock initiates a new era in clinical care and research of pediatric sepsis. The phoenix R package and Python module enable researchers to apply the Phoenix criteria to electronic health records (EHR) datasets and derive the relevant indicators, total scores, and sub-scores.

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JAMIA

MENDS-on-FHIR: leveraging the OMOP common data model and FHIR standards for national chronic disease surveillance

news outletJAMIA
Publish DateJuly 10, 2024

The Multi-State EHR-Based Network for Disease Surveillance (MENDS) is a population-based chronic disease surveillance distributed data network that uses institution-specific extraction-transformation-load (ETL) routines. MENDS-on-FHIR examined using Health Language Seven’s Fast Healthcare Interoperability Resources (HL7® FHIR®) and US Core Implementation Guide (US Core IG) compliant resources derived from the Observational Medical Outcomes Partnership (OMOP) Common Data Model (CDM) to create a standards-based ETL pipeline.

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SPIE

Accelerated parallel magnetic resonance imaging with compressed sensing using structured sparsity

news outletSPIE
Publish DateJuly 03, 2024

Nick Dwork, PhD, and co-authors present a method that combines compressed sensing with parallel imaging that takes advantage of the structure of the sparsifying transformation.

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